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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UBR4
ubiquitin protein ligase E3 component n-recognin 4
Chromosome 1 Β· 1p36.13
NCBI Gene: 23352Ensembl: ENSG00000127481.15HGNC: HGNC:30313UniProt: Q5T4S7
212PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein K27-linked ubiquitinationnegative regulation of fatty acid biosynthetic processprotein K48-linked ubiquitinationneurodegenerative diseaseShort staturedengue diseaselysosomal storage disease
✦AI Summary

UBR4 is an E3 ubiquitin ligase that serves as a central hub for multiple protein quality control pathways in the cytoplasm 1. As a component of the N-end rule pathway, UBR4 recognizes proteins with destabilizing N-terminal residues and catalyzes their ubiquitination and degradation, though it cannot ubiquitinate N-terminally acetylated proteins 2. UBR4 functions as part of several distinct quality control complexes: with UBR5, it assembles heterotypic Lys-11/Lys-48-linked ubiquitin chains on aggregated proteins for proteasomal degradation; with KCMF1, it targets oxidized proteins bearing Arg-CysO3(H) degrons for autophagy via Lys-63/Lys-27-linked chains; and within the SIFI complex, it degrades components of mitochondrial stress response pathways 31. The protein acts as an E4 ligase that recognizes mono-ubiquitinated orphan subunits from multi-protein complexes and extends them with K48-linked poly-ubiquitin chains 14. Structurally, UBR4 forms a massive 1.3-megadalton ring complex with cofactors KCMF1 and CALM1 4. Disease associations include episodic ataxia, early dementia, and cancer, where UBR4 promotes tumor growth by regulating mitochondrial quality control 56.

Sources cited
1
UBR4 is central to protein quality control and acts as E4 ligase for orphan subunits
PMID: 39879985
2
UBR4 recognizes N-terminal residues but cannot ubiquitinate acetylated proteins
PMID: 37891180
3
UBR4 is part of SIFI complex targeting mitochondrial stress response components
PMID: 36576405
4
UBR4 forms 1.3-megadalton ring structure and extends K48-linked ubiquitin chains
PMID: 40875847
5
Disease associations include episodic ataxia and early dementia
PMID: 28600779
6
UBR4 promotes tumor growth by regulating mitochondrial quality control
PMID: 40531870
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.55Moderate
Short statureOpen Targets
0.38Weak
dengue diseaseOpen Targets
0.38Weak
lysosomal storage diseaseOpen Targets
0.31Weak
endocrine neoplasmOpen Targets
0.31Weak
endocrine system diseaseOpen Targets
0.29Weak
major salivary gland cancerOpen Targets
0.29Weak
bone fractureOpen Targets
0.27Weak
response to antihypertensive drugOpen Targets
0.24Weak
episodic ataxia type 8Open Targets
0.23Weak
Episodic ataxia with slurred speechOpen Targets
0.23Weak
peripheral vascular diseaseOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.22Weak
Prolonged QT intervalOpen Targets
0.16Weak
developmental disorder of mental healthOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Premature ovarian insufficiencyOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Episodic ataxia 8UniProt
Pathogenic Variants3
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 3463
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 2344
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 2109
View on ClinVar β†—
Related Genes
CALML4Protein interaction100%CALML5Protein interaction100%CALML3Protein interaction100%CALML6Protein interaction100%UBE2AProtein interaction89%UBR2Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
68%
Lung
66%
Liver
57%
Heart
42%
Brain
39%
Gene Interaction Network
Click a node to explore
UBR4CALML4CALML5CALML3CALML6UBE2AUBR2
PROTEIN STRUCTURE
Preparing viewer…
PDB8J9R Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.24Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.18–0.24]
RankingsWhere UBR4 stands among ~20K protein-coding genes
  • #1,972of 20,598
    Most Researched212 Β· top 10%
  • #3,930of 5,498
    Most Pathogenic Variants3
  • #717of 17,882
    Most Constrained (LOEUF)0.24 Β· top 5%
Genes detectedUBR4
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet Β· 2017
1.00
2
IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease.
PMID: 38885295
J Clin Invest Β· 2024
0.90
3
Tumor-promoting UBR4 coordinates impaired mitophagy-associated senescence and lung adenocarcinoma pathogenesis.
PMID: 40531870
Proc Natl Acad Sci U S A Β· 2025
0.80
4
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors.
PMID: 38803224
Life Sci Alliance Β· 2024
0.80
5
A Ubiquitination Cascade Regulating the Integrated Stress Response and Survival in Carcinomas.
PMID: 36576405
Cancer Discov Β· 2023
0.70